THE IMPORTANCE OF EDUCATING PEDIATRICIANS ABOUT PRIMARY IMMUNODEFICIENCY DISORDERS: A TERTIARY HOSPITAL EXPERIENCE.

Primary immunodeficiency disorders (PIDs) are several genetic disorders that alter the essential components of the immune system leading to errors in differentiation, function or both of these components.There are more than 200 reported different PID diseases with more than 140 identified gene mutations, affecting almost six million individuals globally, but only 27,000-60,000 have being diagnosed.Early diagnosis of PIDs can markedly reduce morbidity and mortality via proper intervention The aim of the study was to estimate the knowledge and attitude of pediatric residents of PIDs.To the best of our knowledge, this is the first study that targets resident physicians in the field of PIDs. A prospective and cross-sectional study was conducted at Hamad Medical Corporation, the only tertiary care, academic and teaching hospital in the state of Qatar. The study took place between January, 2014 and April 30, 2014. A self-administered questionnaire was distributed to 68 pediatric residents (post-graduate year 1-4). In all, 68 eligible resident physicians were included in the study. Out of the 68 questionnaires distributed, 59 (86.7%) were returned by the end of the study. Among the participants, 18 (30.5%) were post-graduate year-1 (PGY-1), 18 (30.5%) PGY-2, 11 (18.6%) PGY-3, and 12 (20.3%) PGY-4.The mean overall score was 58.5 %. The mean score in the clinical presentation was 67.5%, in associated syndromes and diseases was 59%, in screening laboratory work up 55.3%, and in the section of laboratory investigations that suggest PIDs 52%. There is a significant lack of knowledge of PIDs among pediatric residents. In addition, a large number of pediatric physicians in training do not feel comfortable in diagnosing and managing young children with PIDs. Pediatric residency working hours rule restrict the luxury of having an allergy/immunology rotation during residency. A mutual effort in sharing diagnosis and management of patients with PIDs between pediatric residents and attending immunologists can ameliorate the lack of knowledge and improve the trainee's confidence when facing such cases.

Subdural empyema due to Escherichia coli and Neisseria meningitides in an immunocompetent infant (a case report).

Subdural empyema (SDE) is a focal accumulation of pus between the arachnoid and dura matter. In infants and young children, it is usually attributed to meningitis complications. SDE is considered a serious neurological condition and the culprit is usually a single organism. In rare occasions, polymicrobial is the cause and the organisms involved are, usually streptococci and anaerobe bacteria. A search of the PubMed database was carried out, using a combination of the following terms: subdural empyema , infant, and meningitis. The majority studies conducted on infants mentioned one single organism as the cause of subdural empyema. We are presenting a rare, if not unique, case of subdural empyema in an immunocompetent infant due to an unusual combination of Escherichia coli and Neisseria meningitides. Meningitis is a dynamic disease, and its detrimental consequences could be avoided if diagnosed early. It will be crucial to re-sample the CSF looking for additional organism if a patient with meningitis continues to be febrile, despite antibiotics therapy. Although CSF culture is considered the gold standard in identifying the organism in meningitis, it could be missed due to different reasons including technical flaws. Latex bacterial antigen test could be an indispensable ancillary technique in the diagnosis of meningitis and hence treatment.

TPN cholestasis in infants: what do we know? Review.

Cholestasis is a condition in which there is a decrease in or complete cessation of bile flow. Total Parenteral Nutrition (TPN) Cholestasis cases have been on the rise due to the decrease ratio of mortality among premature babies. Using Pubmed, articles were searched using terms in combination: Molecular basis of cholestasis and management. The literature was also retrieved from books attributed to experts in the topic. This article describes the definition, incidence, risk factors, pathogenesis,the molecular basis of hepatobiliary transport, bile acid transporters,cellular regulation, and uptodate and prospective medical Care of TPN Cholestasis. It was found that TPN cholestasis in infants is considered as a major epidemic. Targeting Constitutive androstane receptor and Pregnane X receptor potent agonist will be one of the ultimate goals in inventing new pharmacological agents for the management and treatment of cholestasis related to TPN use. Glutamine, Omega 3 and soybean oil fat appear to have a protective role in the development of TPN cholestasis. However, further studies especially randomized control trials should be conducted.

Failure to thrive in infants (review).

Failure to thrive (FTT) is a common issue in practice. The definition of FTT differs among authors and among practices. FTT is usually categorized into organic vs. non-organic. This paper is a review of different articles that contains the terms "failure to thrive". A Review of articles was performed using Pub med and different journal websites. This article discusses the different definitions of FTT, the prevalence , the assessments , together with information on management. The initial step in managing an infant or child with FTT is to identify the cause whether it is "organic" or " non organic". An appropriate encounter would be by having a system-based approach. In addition to the pediatrician's skills in medical diagnosis and management, there is a need for evaluation of the child's temperament and development, oromotor functioning, nutritional needs and deficits, and family and social support systems.